Canonical Allele Identifier: CA244671301
Gene: HPD HGNC NCBI

Linked Data

dbSNP Id: rs375453752
gnomAD v4: 12-121847001-C-A
MyVariant Identifiers: chr12:g.122284907C>A (hg19) chr12:g.121847001C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121847001C>A , CM000674.2:g.121847001C>A GRCh38
NC_000012.11:g.122284907C>A , CM000674.1:g.122284907C>A GRCh37
NC_000012.10:g.120769290C>A NCBI36
NG_016461.1:g.46611G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000289004.8:c.759+51G>T MANE Select ENSP00000289004.4:n.759+51G>T
ENST00000543163.5:c.642+51G>T ENSP00000441677.1:n.642+51G>T
NM_001171993.1:c.642+51G>T NP_001165464.1:n.642+51G>T
NM_002150.2:c.759+51G>T NP_002141.1:n.759+51G>T
NM_002150.3:c.759+51G>T MANE Select NP_002141.2:n.759+51G>T
NM_001171993.2:c.642+51G>T NP_001165464.1:n.642+51G>T
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